Objective: To report a case girl with 45X/47XXX mosaic Turner syndrome exhibiting a progressive puberty.
Design: Case report
Result: A 9 years 4 months old girl was presented with growth retardation. Chromosome analysis revealed a mosaic karyotype 45X/47XXX. She presented with normal height but much lower than the mid-parental height. During annual check-ups, her growth rate was accelerated without growth hormone treatment, her physical examination revealed a Tanner stage II to stage IV and menarche occurred spontaneously in 14 months.
Conclusion: A few rare cases of progress puberty with mosaic Turner syndrome have been described. Here we describe a case of TS with the 45X/47XXX presenting with growth retardation, onset of spontaneous progressive puberty. Although the mechanism leading to progressive puberty in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.
Keywords: Turner syndrome, progressive puberty, 45X/47XXX mosaicism
19 - 21 Sep 2019
European Society for Paediatric Endocrinology